June 2020
Volume 61, Issue 7
Open Access
ARVO Annual Meeting Abstract  |   June 2020
Iris reflectance measurements in >1000 healthy adult twins: exploration of heritability and associations with eye color
Author Affiliations & Notes
  • Andrea Kimberly Uy
    School of Medicine, Imperial College London, London, United Kingdom
    Institute of Ophthalmology, University College London, London, United Kingdom
  • Xiaofan Jiang
    Institute of Ophthalmology, University College London, London, United Kingdom
    Twin Research and Genetic Epidemiology, King’s College London, London, United Kingdom
  • Alex Tanner
    Institute of Ophthalmology, University College London, London, United Kingdom
    Twin Research and Genetic Epidemiology, King’s College London, London, United Kingdom
  • Mark Simcoe
    Institute of Ophthalmology, University College London, London, United Kingdom
    Twin Research and Genetic Epidemiology, King’s College London, London, United Kingdom
  • Diana Kozareva
    Twin Research and Genetic Epidemiology, King’s College London, London, United Kingdom
    Ophthalmology, King’s College London, United Kingdom
  • Katie Williams
    Institute of Ophthalmology, University College London, London, United Kingdom
    Twin Research and Genetic Epidemiology, King’s College London, London, United Kingdom
  • Pirro G Hysi
    Twin Research and Genetic Epidemiology, King’s College London, London, United Kingdom
    Ophthalmology, King’s College London, United Kingdom
  • Christopher Hammond
    Twin Research and Genetic Epidemiology, King’s College London, London, United Kingdom
    Ophthalmology, King’s College London, United Kingdom
  • Omar Abdul Rahman Mahroo
    Institute of Ophthalmology, University College London, London, United Kingdom
    Ophthalmology, King’s College London, United Kingdom
  • Footnotes
    Commercial Relationships   Andrea Kimberly Uy, None; Xiaofan Jiang, None; Alex Tanner, None; Mark Simcoe, None; Diana Kozareva, None; Katie Williams, None; Pirro Hysi, None; Christopher Hammond, None; Omar Mahroo, None
  • Footnotes
    Support  Wellcome Trust (206619/Z/17/Z); Fight for Sight UK; Moorfields Eye Charity; NIHR Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology; TwinsUK receives support from the Wellcome Trust and Biomedical Research Centre based at Guy's and St Thomas' NHS Foundation Trust and King's College London
Investigative Ophthalmology & Visual Science June 2020, Vol.61, 1866. doi:
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      Andrea Kimberly Uy, Xiaofan Jiang, Alex Tanner, Mark Simcoe, Diana Kozareva, Katie Williams, Pirro G Hysi, Christopher Hammond, Omar Abdul Rahman Mahroo; Iris reflectance measurements in >1000 healthy adult twins: exploration of heritability and associations with eye color. Invest. Ophthalmol. Vis. Sci. 2020;61(7):1866.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : Eye color is highly heritable, and some ocular diseases can be associated with changes in levels of iris pigmentation. In this study, we explored iris reflectance measurements made with a portable device in adult twins, exploring intra-pair correlations and investigating whether these differed significantly between eye colors.

Methods : Healthy adult volunteers were recruited from the TwinsUK cohort. Participants underwent undilated photopic electroretinogram recordings using a portable electroretinography device (RETeval, LKC Technologies Inc., Gaithersburg, MD, USA) as part of a large electroretinography study. During recordings, the device captured a video image of the participant’s eye. Iris pixel intensity (divided by that recorded from the pupil) was extracted from this image by the device’s software. We quantified coefficients of intra-pair correlation for monozygotic (MZ) and dizygotic (DZ) twin pairs. Qualitative iris color was also noted (blue, grey, green, hazel, light brown or dark brown). Measurements were compared between iris color categories (one-way ANOVA).

Results : Recordings and images were obtained from 1626 participants. After exclusion of singletons, data was available from 1374 twins (454 MZ and 233 DZ pairs). 84% were female. Mean (SD) age was 53.6 (16.2) years for the whole cohort. Coefficients of intra-pair correlation were 0.75 and 0.44 for MZ and DZ pairs respectively. Mean measurements differed significantly (p<0.05) between eye color categories for 10 out of 15 pair-wise comparisons (the following comparisons were not significant: blue-grey; blue-green; grey-green; green-hazel; hazel-light brown).

Conclusions : Iris reflectance ratio measurements, as quantified by the portable device, showed greater intra-pair correlation for MZ than DZ pairs, implying significant heritability. These measurements also differed significantly between eye color categories, suggesting possible utility as a continuous quantitative trait relating to iris pigmentation.

This is a 2020 ARVO Annual Meeting abstract.

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